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Ovarian cyst torsion in a patient with congenital lipoid adrenal hyperplasia.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02000-8
- By:
- Publication type:
- Article
Mutation Spectrum of STAR and the Founder Effect of p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia.
- Published in:
- Molecular Medicine, 2017, v. 23, p. 149, doi. 10.2119/molmed.2017.00023
- By:
- Publication type:
- Article
Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies.
- Published in:
- Molecular Medicine, 2016, v. 22, n. 1, p. 147, doi. 10.2119/molmed.2015.00254
- By:
- Publication type:
- Article
Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies.
- Published in:
- Molecular Medicine, 2016, v. 22, p. 147, doi. 10.2119/molmed.2015.00254
- By:
- Publication type:
- Article
A 10‐year follow‐up of high‐dose ambroxol treatment combined with enzyme replacement therapy for neuropathic Gaucher disease.
- Published in:
- American Journal of Hematology, 2024, v. 99, n. 7, p. 1396, doi. 10.1002/ajh.27302
- By:
- Publication type:
- Article
Upgrading the evidence for the use of ambroxol in Gaucher disease and GBA related Parkinson: Investigator initiated registry based on real life data.
- Published in:
- American Journal of Hematology, 2021, v. 96, n. 5, p. 545, doi. 10.1002/ajh.26131
- By:
- Publication type:
- Article
Diabetes mellitus caused by secondary hemochromatosis after multiple blood transfusions in 2 patients with severe aplastic anemia.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Long-term clinical outcome and the identification of homozygous CYP27B1 gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1A.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Long-term efficacy of recombinant human growth hormone therapy in short-statured patients with Noonan syndrome.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2016, v. 21, n. 1, p. 26, doi. 10.6065/apem.2016.21.1.26
- By:
- Publication type:
- Article
Endocrine dysfunctions in children with Williams- Beuren syndrome.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2016, v. 21, n. 1, p. 15, doi. 10.6065/apem.2016.21.1.15
- By:
- Publication type:
- Article
Turner syndrome presented with tall stature due to overdosage of the SHOX gene.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Campomelic Dysplasia with Sex Reversal Harboring a Novel Frameshift Mutation.
- Published in:
- Neonatal Medicine, 2020, v. 27, n. 4, p. 197, doi. 10.5385/nm.2020.27.4.197
- By:
- Publication type:
- Article
A Novel COL4A1 Mutation in a Neonate with Intrauterine Intraventricular Hemorrhage and Porencephaly.
- Published in:
- Neonatal Medicine, 2020, v. 27, n. 1, p. 16, doi. 10.5385/nm.2020.27.1.16
- By:
- Publication type:
- Article
Newly Detected PKHD1 Gene Mutation in a Newborn with Fatal Autosomal Recessive Polycystic Kidney Disease.
- Published in:
- Neonatal Medicine, 2015, v. 22, n. 4, p. 217, doi. 10.5385/nm.2015.22.4.217
- By:
- Publication type:
- Article
Continuous Renal Replacement Therapy in the Neonatal Intensive Care Unit: A Single Center Study.
- Published in:
- Neonatal Medicine, 2014, v. 21, n. 4, p. 244, doi. 10.5385/nm.2014.21.4.244
- By:
- Publication type:
- Article
Human Embryonic Stem Cell-Derived Wilson's Disease Model for Screening Drug Efficacy.
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 4, p. 872, doi. 10.3390/cells9040872
- By:
- Publication type:
- Article
Prevalence of hypouricaemia and SLC22A12 mutations in healthy Korean subjects.
- Published in:
- Nephrology, 2008, v. 13, n. 8, p. 661, doi. 10.1111/j.1440-1797.2008.01029.x
- By:
- Publication type:
- Article
Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 9, p. 501, doi. 10.1038/jhg.2015.54
- By:
- Publication type:
- Article
Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 7, p. 395, doi. 10.1038/jhg.2015.30
- By:
- Publication type:
- Article
Allele frequency of a 24 bp duplication in exon 10 of the CHIT1 gene in the general Korean population and in Korean patients with Gaucher disease.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 5, p. 276, doi. 10.1038/jhg.2014.16
- By:
- Publication type:
- Article
Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 9, p. 604, doi. 10.1038/jhg.2013.67
- By:
- Publication type:
- Article
Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Online turnover-free control for a mobile agent with a terrain prediction sensor.
- Published in:
- Journal of Field Robotics, 2006, v. 23, n. 1, p. 59, doi. 10.1002/rob.20107
- By:
- Publication type:
- Article
Osler-Weber-Rendu disease presenting with hepatocellular carcinoma: radiologic and genetic findings.
- Published in:
- Korean Journal of Hepatology, 2011, v. 17, n. 4, p. 313, doi. 10.3350/kjhep.2011.17.4.313
- By:
- Publication type:
- Article
Clinical Genetic Testing in Children with Kidney Disease.
- Published in:
- Childhood Kidney Diseases, 2021, v. 25, n. 1, p. 14, doi. 10.3339/jkspn.2021.25.1.14
- By:
- Publication type:
- Article
Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutations.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 1, p. 62, doi. 10.1038/jhg.2011.116
- By:
- Publication type:
- Article
Low prevalence of classical galactosemia in Korean population.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 1, p. 94, doi. 10.1038/jhg.2010.152
- By:
- Publication type:
- Article
Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.
- Published in:
- Journal of Human Genetics, 2010, v. 55, n. 8, p. 512, doi. 10.1038/jhg.2010.58
- By:
- Publication type:
- Article
Intelligent Lead: A Novel HRI Sensor for Guide Robots.
- Published in:
- Sensors (14248220), 2012, v. 12, n. 6, p. 8301, doi. 10.3390/s120608301
- By:
- Publication type:
- Article
Aberrant Cortical Layer Development of Brain Organoids Derived from Noonan Syndrome-iPSCs.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 22, p. 13861, doi. 10.3390/ijms232213861
- By:
- Publication type:
- Article
Impaired Osteogenesis of Disease-Specific Induced Pluripotent Stem Cells Derived from a CFC Syndrome Patient.
- Published in:
- International Journal of Molecular Sciences, 2017, v. 18, n. 12, p. 2591, doi. 10.3390/ijms18122591
- By:
- Publication type:
- Article
PDDL Planning with Natural Language-Based Scene Understanding for UAV-UGV Cooperation.
- Published in:
- Applied Sciences (2076-3417), 2019, v. 9, n. 18, p. 3789, doi. 10.3390/app9183789
- By:
- Publication type:
- Article
Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.
- Published in:
- Genes, 2021, v. 12, n. 5, p. 675, doi. 10.3390/genes12050675
- By:
- Publication type:
- Article
De Novo Development of mtDNA Deletion Due to Decreased POLG and SSBP1 Expression in Humans.
- Published in:
- Genes, 2021, v. 12, n. 2, p. 284, doi. 10.3390/genes12020284
- By:
- Publication type:
- Article
Long-Term Follow-Up of Peripheral Pigmentary Retinopathy in Asian Patients with Danon Disease.
- Published in:
- Genes, 2020, v. 11, n. 11, p. 1356, doi. 10.3390/genes11111356
- By:
- Publication type:
- Article
High allele frequency of the p.Q258X mutation and identification of a novel mis-splicing mutation in the STAR gene in Korean patients with congenital lipoid adrenal hyperplasia.
- Published in:
- European Journal of Endocrinology, 2011, v. 165, n. 5, p. 771, doi. 10.1530/EJE-11-0597
- By:
- Publication type:
- Article
Genetic basis of Bartter syndrome in Korea.
- Published in:
- Nephrology Dialysis Transplantation, 2012, v. 27, n. 4, p. 1516, doi. 10.1093/ndt/gfr475
- By:
- Publication type:
- Article
Identification of a novel therapeutic target underlying atypical manifestation of Gaucher disease.
- Published in:
- Clinical & Translational Medicine, 2022, v. 12, n. 5, p. 1, doi. 10.1002/ctm2.862
- By:
- Publication type:
- Article
Decreased renal uptake of <sup>99m</sup>Tc-DMSA in patients with tubular proteinuria.
- Published in:
- Pediatric Nephrology, 2009, v. 24, n. 11, p. 2211, doi. 10.1007/s00467-009-1238-2
- By:
- Publication type:
- Article
UTI in infancy: are voiding cystourethrography and prophylactic antibiotics necessary?
- Published in:
- 2009
- By:
- Publication type:
- Letter
Variable phenotype of Pierson syndrome.
- Published in:
- Pediatric Nephrology, 2008, v. 23, n. 6, p. 995, doi. 10.1007/s00467-008-0748-7
- By:
- Publication type:
- Article
Idiopathic membranous nephropathy in children.
- Published in:
- Pediatric Nephrology, 2006, v. 21, n. 11, p. 1707, doi. 10.1007/s00467-006-0246-8
- By:
- Publication type:
- Article
Impaired osteogenesis in Menkes disease-derived induced pluripotent stem cells.
- Published in:
- Stem Cell Research & Therapy, 2015, v. 6, n. 1, p. 1, doi. 10.1186/s13287-015-0147-5
- By:
- Publication type:
- Article
Impaired osteogenesis in Menkes disease-derived induced pluripotent stem cells.
- Published in:
- Stem Cell Research & Therapy, 2015, v. 6, n. 1, p. 160, doi. 10.1186/s13287-015-0147-5
- By:
- Publication type:
- Article
Clinical and Endocrine Features of Two Allan-Herndon-Dudley Syndrome Patients with Monocarboxylate Transporter 8 Mutations.
- Published in:
- Hormone Research in Paediatrics, 2015, v. 83, n. 4, p. 288, doi. 10.1159/000371466
- By:
- Publication type:
- Article
Three Novel Pathogenic Mutations in K<sub>ATP</sub> Channel Genes and Somatic Imprinting Alterations of the 11p15 Region in Pancreatic Tissue in Patients with Congenital Hyperinsulinism.
- Published in:
- Hormone Research in Paediatrics, 2015, v. 83, n. 3, p. 204, doi. 10.1159/000371445
- By:
- Publication type:
- Article
High Frequency of DUOX2 Mutations in Transient or Permanent Congenital Hypothyroidism with Eutopic Thyroid Glands.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 82, n. 4, p. 252, doi. 10.1159/000362235
- By:
- Publication type:
- Article
Response to Growth Hormone Therapy in Children with Noonan Syndrome: Correlation with or without PTPN11 Gene Mutation.
- Published in:
- Hormone Research in Paediatrics, 2012, v. 77, n. 6, p. 388, doi. 10.1159/000339677
- By:
- Publication type:
- Article
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 3, p. 298, doi. 10.1111/cge.14382
- By:
- Publication type:
- Article